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Hereditary diseases

ACG Releases Guideline for Hereditary Hemochromatosis

The American College of Gastroenterology has released a clinical guideline for the management and treatment of hereditary hemochromatosis (HH), specifically addressing phlebotomy as first-line treatment, as well as considerations for diagnosis, screening, and liver transplantation.

“The primary goal in the management of hereditary hemochromatosis is to identify patients before end-organ injury and initiate treatment via iron depletion before irreversible end-organ damage,” the authors wrote. 

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Overall, the guideline includes 10 recommendations, 6 of which are strong and 4 of which are conditional. 

The guideline includes the following strong recommendations:

  • Phlebotomy should be used as first-line treatment for HH;
  • Routine use of proton-pump inhibitors (PPIs) should not be used for primary treatment of HH;
  • Chelation should not be used as first-line therapy for HH, given the effectiveness of phlebotomy, the associated side effects of chelation including hepatic and renal toxicity, and the relatively small sample size of clinical trials supporting chelation; 
  • Iron chelation should only be used among individuals with HH who are intolerant or refractory to phlebotomy, or when phlebotomy could lead to harm;
  • Family members, particularly first-degree relatives, of individuals diagnosed with HH should be screened for HH;
  • Liver transplantation should be considered among those with HH and decompensated cirrhosis or hepatocellular carcinoma.

 

The guideline further recommends individuals with the H63D or S65C mutation, but without the C282Y mutation, be counseled that they do not have an increased risk of iron overload. Further genetic testing should not take place among individuals with iron overload that test negative for the C282Y and H63D alleles.

“Phlebotomy remains the mainstay of therapy, but emerging novel therapies such as new chelating agents may have a role for selected patients,” the authors wrote.

—Colleen Murphy

Reference:

Kowdley KV, Brown KE, Ahn J, Sundaram V. ACG clinical guideline: hereditary hemochromatosis [published online July 22, 2019]. Am J Gastroenterol. doi:10.14309/ajg.0000000000000315.